OMIA 002601-9940 : Type I interferon receptor deficiency in Ovis aries

Category: Immune system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 602376 (gene) , 616669 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: unknown

Key variant known: yes

Year key variant first reported: 2022

Species-specific description: Davies et al. (2022): "One or both chains of the sheep IFNAR were disrupted in fetal fibroblast lines using CRISPR/Cas9 and 12 lambs were produced by somatic cell nuclear transfer (SCNT). ... Although many lambs have died from SCNT related problems or infections, one fertile IFNAR2 -/- ram lived to over 4 years of age, remained healthy, and produced more than 80 offspring. Interestingly, ZIKV infection studies failed to demonstrate a high level of susceptibility. Presumably, these sheep compensated for a lack of type I IFN signaling using the type II, IFN-gamma and type III, IFN-lambda pathways. ... A breeding herd of 32 IFNAR2 +/- ewes, which are fertile, has been developed for production of IFNAR2 -/- sheep for both infection and reproduction studies." This study involves genetically modified organisms (GMO).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
IFNAR2 interferon (alpha, beta and omega) receptor 2 Ovis aries 1 NC_056054.1 (123014718..122979204) IFNAR2 Homologene, Ensembl, NCBI gene

Reference


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2022 Davies, C.J., Fan, Z., Morgado, K.P., Liu, Y., Regouski, M., Meng, Q., Thomas, A.J., Yun, S.I., Song, B.H., Frank, J.C., Perisse, I.V., Van Wettere, A., Lee, Y.M., Polejaeva, I.A. :
Development and characterization of type I interferon receptor knockout sheep: A model for viral immunology and reproductive signaling. Front Genet 13:986316, 2022. Pubmed reference: 36246651. DOI: 10.3389/fgene.2022.986316.

Edit History


  • Changed by Imke Tammen2 on 24 Nov 2022
  • Created by Imke Tammen2 on 24 Nov 2022